I have been able to do more research and talk with some families who have theses children. I really wish I had all avaliable information and was able to explain it to you. I am hopeful when I look at Caroline and see all of her progress, yet I want to be honest and reasonable with this diagnosis. From what I understand there are 25 confirmed living cases. I am in touch with families of a 2 yr old, 8 yr old, and 18 yrs. old. these children have mental retardation, dental issues, learning difficulties, poor speech, urinary and kidney problems. Thier hands and feet are similar to Caroline's. She has mild webbibg in her hands and more in her feet, primarily her toes.Caroline has all her normal 46 chromosomes plus 2/3 of these chromosomes have an extra copy. So She has three sets of chromosomes for 2/3 of her regular set. I do not know the exact matches, but do lan to know. I have not received the complete genetic report. It takes months.
I do have about three doctors that I would like to go see in the near future. They may be able to help me understand what this diagnosis means for us. There is a geneticist at Dupont. Dr. Harbison is in NY for endocrinology, and another Geneticist called Dr. Niche.
Caroline is now reaching for objects, cooing loudly and responding back to us. She also can support her head and hold it up briefly while her back is supported.
17 comments:
Kim~
Thank you for keeping us updated. I imagine this diagnosis must bring a range of emotions and I am praying that the Lord would keep you in perfect peace. That He would lead you to just the right doctors & the right people to talk to. Caroline sounds like such a delightful & precious baby! I praise God for each new skill & milestone she hits! I bet her cooing is the sweetest music to your ears! She is precious in His sight and so are you!
~Melanie
Kimberly,
I can't tell you how much you uplift Dad and I!!! You're strengh and your faith make us soooo very proud. You are a product of all the teachings and "life lessons" we learned from one special Pastor we had at Ballast Point years ago. Of course that is Don Gaffney. He taught us so much and we've gotten thru a lot of tough times relying on what he taught us to rely upon in the Bible.I think you get your strengh from Dad... I have alot of faith, hope, patience, but emotionally I'm not too good!! But you are!!! And I also want to thank everyone for writing in the blog and uplifting Kimberly & Cameron. It really does help!! Love You All, Mom
Kim and Cameron,
You always include such wonderful information about how well Caroline is doing, the progress she makes and how loved she is. You are tremendous parents who have dug deep and come up with so much strength and courage. Post some pics of this little sweetheart and her sister too!
Melissa
YAY! Caroline is reaching for objects! I love to hear of her progress. You are doing such a fabulous job with all you have on your plate!!!!
Love you,
Kelly
Something just drew me to google mosaic triploidy again this afternoon and I found your blog for the first time. I wanted to post that we were given our wonderful miracle this August. Our daughter was diagnosed with mosaic triploidy when I was around 17 weeks pregnant and she was delivered at 3 pounds 6 ounces late this August. There is so little information out there on this condition that I hope we can connect and learn more together. Our girls are such gifts and such inspirations. Our daughter is now 3months old and weighs 7 pounds. Please email me. I would love to know more about the other families you have met. I only know of two and now yours as well. :)
Best regards,
Ariana
I have a 9 year old boy with moasic triploidy 69xxy.Giovanni is joy and heart break at the same time.This is my first time reading about other stories.Now I have a computer and would like to let others know about Giovanni.I would like to talk and share with you what my life has been like and here more about Caroline.Look forward to hear from you.
I have a 9 year old boy with moasic triploidy 69xxy.Giovanni is joy and heart break at the same time.This is my first time reading about other stories.Now I have a computer and would like to let others know about Giovanni.I would like to talk and share with you what my life has been like and here more about Caroline.Look forward to hear from you.
Here is a link to more information about the genetics of Triploidy that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Triploidy/374. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA
Hi PPL, i would just like to make an introduce myself to you members at carolinerae.blogspot.com
That is what we call a wicked forum, I never care to read out an entire forum section but this forum easily earned my attention and trust me, That?s unusual.
I required some information and was searching on Yahoo.com for it. I visited each of the top 10 pages that came up but didn?t get any relevant result... I then luckily found your diamond message board in the dirt and thought to check it out. This is exactly what I wanted! - what a swell find!
Thanks ladys and gents at carolinerae.blogspot.com and keep your fantastic effort up?!?!!!
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Took me time to read the whole article, the article is great but the comments bring more brainstorm ideas, thanks.
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Thanks for sharing this link, but unfortunately it seems to be offline... Does anybody have a mirror or another source? Please reply to my post if you do!
I would appreciate if a staff member here at carolinerae.blogspot.com could post it.
Thanks,
Charlie
Cool blog, I had not come across carolinerae.blogspot.com before during my searches!
Carry on the excellent work!
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